Catherine E Keegan

Catherine E Keegan

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Catherine E Keegan

Catherine E Keegan

Publications by authors named "Catherine E Keegan"

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 Jan 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics.

Sociol Health Illn 2019 11 21;41(8):1520-1534. Epub 2019 Jun 21.

Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1111/1467-9566.12974DOI Listing
November 2019

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype.

Gene 2018 Dec 4;679:219-231. Epub 2018 Sep 4.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA; Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186184PMC
December 2018

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Am J Med Genet C Semin Med Genet 2017 06 15;175(2):253-259. Epub 2017 May 15.

Department of Pediatrics, Division of Genetics and Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.c.31559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489227PMC
June 2017

Interstitial lung disease of infancy caused by a new mutation.

Clin Case Rep 2017 06 4;5(6):739-743. Epub 2017 Apr 4.

Department of Pediatrics and Communicable Diseases University of Michigan Medical School Ann Arbor Michigan USA.

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http://dx.doi.org/10.1002/ccr3.901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458033PMC
June 2017

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype.

Ophthalmic Genet 2016 12 11;37(4):468-470. Epub 2016 Mar 11.

b W.K. Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , Michigan , USA.

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https://www.tandfonline.com/doi/full/10.3109/13816810.2015.1
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http://dx.doi.org/10.3109/13816810.2015.1120318DOI Listing
December 2016

A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Cold Spring Harb Mol Case Stud 2016 Jul;2(4):a000943

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA;; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1101/mcs.a000943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990810PMC
July 2016

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

Am J Med Genet A 2016 Jan 26;170A(1):233-8. Epub 2015 Sep 26.

Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.37403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036387PMC
January 2016

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

Am J Med Genet A 2013 Aug 3;161A(8):1882-96. Epub 2013 Jul 3.

Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1002/ajmg.a.36018DOI Listing
August 2013

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Am J Med Genet A 2013 May 26;161A(5):1019-27. Epub 2013 Mar 26.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109-5618, USA.

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http://dx.doi.org/10.1002/ajmg.a.35843DOI Listing
May 2013

Aged PROP1 deficient dwarf mice maintain ACTH production.

PLoS One 2011 1;6(12):e28355. Epub 2011 Dec 1.

Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0028355PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3228747PMC
May 2012

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.

Mamm Genome 2011 Dec 22;22(11-12):714-21. Epub 2011 Oct 22.

Department of Pediatrics, University of Michigan, Ann Arbor, USA.

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http://dx.doi.org/10.1007/s00335-011-9360-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298752PMC
December 2011

Telomere protection by TPP1 is mediated by POT1a and POT1b.

Mol Cell Biol 2010 Feb 7;30(4):1059-66. Epub 2009 Dec 7.

Laboratory for Cell Biology and Genetics, The Rockefeller University, 1230 York Avenue, New York, NY 10065-6399, USA.

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http://dx.doi.org/10.1128/MCB.01498-09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815557PMC
February 2010

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):341

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):342

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Tpp1/Acd maintains genomic stability through a complex role in telomere protection.

Chromosome Res 2007 9;15(8):1001-13. Epub 2008 Jan 9.

Department of Internal Medicine, Division of Endocrinology and Metabolism, The University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1007/s10577-007-1175-5DOI Listing
April 2008

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Clin Endocrinol (Oxf) 2007 Aug 27;67(2):168-74. Epub 2007 Apr 27.

Department of Pediatrics, Division of Genetics, University of Michigan Medical School, 1150 W. Medical Center Drive, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2007.02855.xDOI Listing
August 2007

Telomere protection by mammalian Pot1 requires interaction with Tpp1.

Nat Struct Mol Biol 2007 Aug 15;14(8):754-61. Epub 2007 Jul 15.

Laboratory for Cell Biology and Genetics, The Rockefeller University, 1230 York Avenue, New York, New York 10065, USA.

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http://delangelab.rockefeller.edu/pubs/100_Hockemeyer_NSMB_2
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http://www.nature.com/doifinder/10.1038/nsmb1270
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http://dx.doi.org/10.1038/nsmb1270DOI Listing
August 2007

Craniofacial dyssynostosis in two boys with apparently normal cognitive development.

Am J Med Genet A 2006 Jun;140(12):1333-6

Medical School, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1002/ajmg.a.31268DOI Listing
June 2006

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.

Am J Med Genet A 2004 Mar;125A(3):293-8

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48109-0618, USA.

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http://dx.doi.org/10.1002/ajmg.a.20455DOI Listing
March 2004

Mouse knockout solves endocrine puzzle and promotes new pituitary lineage model.

Genes Dev 2003 Mar;17(6):677-82

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-0638, USA.

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http://dx.doi.org/10.1101/gad.1085903DOI Listing
March 2003

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Am J Hum Genet 2003 Feb 27;72(2):408-18. Epub 2002 Nov 27.

Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970760549
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http://dx.doi.org/10.1086/346090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379233PMC
February 2003

Recent insights into organogenesis of the adrenal cortex.

Trends Endocrinol Metab 2002 Jul;13(5):200-8

Dept Pediatrics, Division of Genetics, University of Michigan Medical School, 5552 MSRB II, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0678, USA.

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http://dx.doi.org/10.1016/s1043-2760(02)00602-1DOI Listing
July 2002